The New England Regional Genetics Network is covering the cost for telegenetics training and genetic counselor CEUs for this course offered by the Western States Regional Genetics Network.
The course consists of ten self-paced 3-4 hour modules and a mandatory four hour live Zoom training on either Wednesday, May 5 or Thursday, May 6, 1:00-5:00 pm ET.
For more info, see the flyer below and contact:
BioMarin presents Dr. Barbara Burton discussing The Long-Term Management of Morquio A Syndrome.
Thursday, May 13, 2021, 6:30 PM, ET.
To register: Please contact Kimberlee Harrison at [email protected], or via phone at
603-856-4642. A virtual event link and log-in details will be provided upon confirmation.
Dr. Barbara Burton presents on Morquio A syndrome. Thursday, May 13, 2021, 6:30 pm
Amicus Therapeutics invites you to join an interactive forum with Fabry patients, Rebecca and Joyce, discussing the unique challenges they face as women living with Fabry disease. Tuesday, June 22, 2021, 5:00 PM ET.
Topics include: misconceptions regarding women and Fabry, strategies to advocate for your care, and the impact of Fabry on the family
To register/RSVP, email [email protected]
This year’s conference will be a virtual event, held on Friday, June 25, 2021, 8:30 am – 4:45 pm.
For the conference agenda, click here.
To register, click here.
What’s behind your patient’s unexplained multisystem abnormalities?
Please join us to learn more about the path to diagnosing Acid Sphingomyelinase
Deficiency (ASMD). ASMD is a progressive, multisystemic genetic disease that impacts
both children and adults and is historically known as Niemann-Pick disease (NPD) types
A, A/B, and B. You can attend this special presentation for healthcare professionals from
the convenience of your computer or any device with an internet connection.
Carlos Prada, MD of Cincinnati Children’s Hospital Medical Center
June 30, 2021 12:15 PM ET
To register, click here.
For more information, [email protected] or phone (508)283-8052
Society for Inherited Metabolic Disease North American Metabolic Academy (SIMD NAMA) – Registration open from now until August 1, 2021
The 2021 North American Metabolic Academy will be held September 26 – October 2, 2021 at Lanier Islands Legacy Lodge in Buford, GA which is about one hour out of Atlanta. Registration is now open and will close on August 1, 2021.
The Academy will provide a broad overview of inborn errors of metabolism focusing on the clinical diagnosis and treatment of these disorders. A renowned faculty will guide you through seminars on disease recognition and diagnosis, workshops to integrate understanding of normal metabolism and pathophysiology, and case-based workshops on diagnosis and management.
SIMD NAMA is a sterling opportunity in medical education. To quote one participant, “I think it’s a really powerful endorsement for this field of medicine that its seasoned experts come here for a whole week to teach trainees. I am very impressed with this attitude of teaching and it makes me feel excited to be going into this field. This was a great learning experience.”
For more information and application click here.
Improving Health Care Experiences in the Rare Disease Community
Registration is now open for RNE’s 2021 Virtual Conference!
RNE will host a day of education and information to Rare Disease patients, caregivers, students, and professionals. Caregiver and Patient tickets are FREE this year.
To view agenda and speakers, click here.
The New England Metabolic Consortium of Metabolic Programs is pleased to announce its annual meeting, which will be held virtually on Friday, November 5 from 8am – 12pm!
The Consortium brings together healthcare professionals at all levels involved in identifying and treating individuals with metabolic disorders and encourages innovation, collaboration, and flexibility in programming and activities. Consortium projects have included: developing acute illness materials for the treatment of metabolic disorders and sponsoring social support events around New England.
Click here for more information: Annual Meeting
Co-sponsored by NERGG and Illumina, Lunch and Learn, Wednesday, November 10, 2021, noon – 1:00 PM ET
An Innovative Payer Partnership for Whole Genome Sequencing in Pediatric Rare Disease
Update your understanding of the current evidence supporting the application of whole-genome sequencing (WGS) and learn of an innovative program to accelerate access and evaluate the impact of insurance coverage.
In recent years, whole exome sequencing (WES) for suspected rare and other genetic disease is becoming standard of care for many clinicians and is reimbursed by many payers (e.g., ~65% of patients have coverage for WES). Whole-genome sequencing (WGS) is a fundamentally similar concept as WES, but with technological and clinical advantages.
Illumina and Harvard Pilgrim Health Care (now “Point32Health”) have partnered on a risk-sharing agreement to open coverage of WGS in pediatric outpatients with suspected genetic diseases. The goal of this project is to evaluate the real-world impact on genetic test utilization and the cost to payers. Results will be published, with an aim to accelerate access to WGS for patients and families.
Presenters: Brock Schroeder PhD of Illumina, Melissa Dempsey MS CGC of Illumina, and Sara Parsons of Point32Health.
To register, click here.
